What is Amelogenesis Imperfecta?

Amelogenesis imperfecta is a genetic disorder that affects normal tooth formation. The condition can manifest in one of several different ways, but most types of amelogenesis imperfecta share the same basic characteristics. The outer layer of enamel that normally protects teeth is thin, discolored, and rough in people with the disorder. Individuals' teeth are often very fragile, brown or yellow in color, and highly prone to breaks or cavities as well. Artificial caps and enamel bonding treatments are helpful for people with relatively mild forms of amelogenesis imperfecta, though some patients must have their teeth completely removed and replaced with implants.

Genetic research has uncovered several genes that contribute to healthy tooth development. In the case of amelogenesis imperfecta, one or more of the genes involved are inactivated or mutated. Damaged genes are unable to produce the proteins necessary to form and maintain hard enamel. Most sub-types of the disease follow an autosomal dominant pattern of inheritance, meaning that a person can develop symptoms if one of his or her parents carries an abnormal gene.

Amelogenesis imperfecta is usually first noticeable in infancy or early childhood and continues to affect sufferers once their adult teeth grow. Enamel is typically very thin or pitted, and the teeth themselves are usually small and poorly aligned. There may be discoloration in certain spots or across all of the teeth. Patients are often highly sensitive to hot and cold liquids, and they may frequently experience mouth pain related to cavities and bacterial tooth infections.

A dentist can diagnose amelogenesis imperfecta by performing a thorough physical exam and asking about the patient's medical and family history. X-rays and other imaging scans may be taken during exams to assess the extent of damage to the inner layers of the teeth. Genetic blood testing also may be ordered to confirm that symptoms are the result of an inherited condition rather than poor hygiene or other environmental factors.

Treatment for amelogenesis imperfecta depends on the type and severity of a patient's symptoms. In many cases, restoration procedures that involve coating affected teeth with synthetic enamel are sufficient to improve their appearance and strength. People who have severely damaged teeth, multiple cavities, and high sensitivity and pain may need to undergo replacement surgery. The teeth are extracted and replaced with either removable dentures or permanent artificial implants. Following surgery, most patients are able to fully recover without experiencing major dental problems in the future.